Article
The genetic basis of DOORS syndrome: an exome-sequencing study.
The Lancet. Neurology - 1 Jan 2014
Campeau Philippe M, Kasperaviciute Dalia, Lu James T, Burrage Lindsay C, Kim Choel, Hori Mutsuki, Powell Berkley R, Stewart Fiona, Félix Têmis Maria, van den Ende Jenneke, Wisniewska Marzena, Kayserili Hülya, Rump Patrick, Nampoothiri Sheela, Aftimos Salim, Mey Antje, Nair Lal D V, Begleiter Michael L, De Bie Isabelle, Meenakshi Girish, Murray Mitzi L, Repetto Gabriela M, Golabi Mahin, Blair Edward, Male Alison, Giuliano Fabienne, Kariminejad Ariana, Newman William G, Bhaskar Sanjeev S, Dickerson Jonathan E, Kerr Bronwyn, Banka Siddharth, Giltay Jacques C, Wieczorek Dagmar, Tostevin Anna, Wiszniewska Joanna, Cheung Sau Wai, Hennekam Raoul C, Gibbs Richard A, Lee Brendan H, Sisodiya Sanjay M
Abstract excerpt
BACKGROUND: Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals. METHODS: Through a search of available case studies and communication with collaborators, we identified families that included at least one...
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